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MYH7 Gene

protein-coding   GIFtS: 65
GCID: GC14M023881

Myosin, Heavy Chain 7, Cardiac Muscle, Beta

(Previous names: myopathy, distal 1, myosin, heavy polypeptide 7, cardiac...)
(Previous symbols: CMH1, MPD1)
  See MYH7-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Myosin, Heavy Chain 7, Cardiac Muscle, Beta1 2     SPMD2 5
CMH11 2 5     SPMM2 5
MPD11 2 5     Beta-Myosin Heavy Chain2
Myopathy, Distal 11 2     myHC-beta2
Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta1 2     myhc-slow2
Myosin Heavy Chain 72 3     Myosin Heavy Chain (AA 1-96)2
Myosin Heavy Chain Slow Isoform2 3     myosin-72
Myosin Heavy Chain, Cardiac Muscle Beta Isoform2 3     Rhabdomyosarcoma Antigen MU-RMS-40.7A2
MYHCB2 3     MyHC-beta3
CMD1S2 5     MyHC-slow3

External Ids:    HGNC: 75771   Entrez Gene: 46252   Ensembl: ENSG000000920547   OMIM: 1607605   UniProtKB: P128833   

Export aliases for MYH7 gene to outside databases

Previous GC identifers: GC14M021254 GC14M017669 GC14M021872 GC14M022951 GC14M003998


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MYH7 Gene:
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2
regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It
is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in
slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy
subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also
altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with
familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset
distal myopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for MYH7 Gene:
MYH7 (myosin, heavy chain 7, cardiac muscle, beta) is a protein-coding gene. Diseases associated with MYH7 include hypertrophic cardiomyopathy, and myh7-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include actin binding and ATPase activity. An important paralog of this gene is MYH8.

UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
Function: Muscle contraction

summary for MYH7 Gene:
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding
and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name),
almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain
that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts
with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory
myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II.
Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is
involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a
contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by
intracellular Ca2+ concentrations.

Gene Wiki entry for MYH7 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the MYH7 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   HNF-4alpha2   HNF-4alpha1   YY1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MYH7 promoter sequence
   Search Chromatin IP Primers for MYH7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYH7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2-q13

MYH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYH7 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023881:  view genomic region     (about GC identifiers)

Start:
23,881,947 bp from pter      End:
23,904,927 bp from pter
Size:
22,981 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883 (See protein sequence)
Recommended Name: Myosin-7  
Size: 1935 amino acids; 223097 Da
Subunit: Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain
subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with ECM29
Miscellaneous: The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase
Caution: Represents a conventional myosin. This protein should not be confused with the unconventional myosin-7
(MYO7)
5 PDB 3D structures from and Proteopedia for MYH7:
1IK2 (3D)        2FXM (3D)        2FXO (3D)        3DTP (3D)        4DB1 (3D)    
Secondary accessions: A2TDB6 B6D424 Q14836 Q14837 Q14904 Q16579 Q2M1Y6 Q92679 Q9H1D5 Q9UDA2
Q9UMM8

Explore the universe of human proteins at neXtProt for MYH7: NX_P12883

Explore proteomics data for MYH7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys207, Lys213, Lys1531, Lys1537
  • Modification sites at PhosphoSitePlus

  • See MYH7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000248.2  
    ENSEMBL proteins: 
     ENSP00000347507  
    Reactome Protein details: P12883

    MYH7 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for MYH7

     
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    antibodies-online proteins for MYH7 (3 products) 

     
    antibodies-online peptides for MYH7

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    antibodies-online antibodies for MYH7 (27 products) 

    MYH7 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MYHII: Myosins / Myosin superfamily : Class II

    Selected InterPro protein domains (see all 6):
     IPR027401 Myosin-like_IQ_dom
     IPR004009 Myosin_N
     IPR027417 P-loop_NTPase
     IPR000048 IQ_motif_EF-hand-BS
     IPR002928 Myosin_tail

    Graphical View of Domain Structure for InterPro Entry P12883

    ProtoNet protein and cluster: P12883

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB002928 Myosin tail
    IPB004009 Myosin N-terminal SH3-like domain


    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
    Domain: The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of
    4 heptapeptides, characteristic for alpha-helical coiled coils
    Domain: Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can
    later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2)
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 myosin head-like domain


    Find genes that share domains with MYH7           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYH7_HUMAN, P12883
    Function: Muscle contraction

         Genatlas biochemistry entry for MYH7:
    myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 7,cardiac
    muscle,beta

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000146microfilament motor activity NAS3021460
    GO:0003774motor activity ----
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI17192269
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with MYH7           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Myh7):
     no phenotypic analysis 

    Find genes that share phenotypes with MYH7           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MYH7

    miRNA
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    eBioscience FlowRNA Probe Sets ( VA6-14152) for MYH7 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MYH7_HUMAN, P12883: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IEA--
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005859muscle myosin complex TAS3021460

    Find genes that share ontologies with MYH7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MYH7 About   (see all 17)  
    See pathways by source

    SuperPathContained pathways About
    1Immune response CCR3 signaling in eosinophils
    Inhibitory action of Lipoxins on neutrophil migration0.51
    Immune response CCR3 signaling in eosinophils0.51
    2Cell adhesion Integrin mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases0.49
    Development MAG dependent inhibition of neurite outgrowth0.46
    Cell adhesion Integrin mediated cell adhesion and migration0.49
    Cell adhesion Tight junctions0.33
    3PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    4Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Dilated cardiomyopathy0.75
    5Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35


    Find genes that share SuperPaths with MYH7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MYH7 (see all 13)
        RhoA Pathway
    Factors Promoting Cardiogenesis in Vertebrates
    Antioxidant Action of Vitamin-C
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex

    Selected GeneGo (Thomson Reuters) Pathways for MYH7 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Inhibitory action of Lipoxins on neutrophil migration
    Immune response CCR3 signaling in eosinophils
    Cell adhesion Tight junctions

    1 Reactome Pathway for MYH7
        Translocation of GLUT4 to the plasma membrane


    Selected Kegg Pathways  (Kegg details for MYH7) (see all 6):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Tight junction
    Hypertrophic cardiomyopathy (HCM)
    Dilated cardiomyopathy

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH7: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MYH7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MYH7 (P128832, 3 ENSP000003475074) via UniProtKB, MINT, STRING, and/or I2D (see all 215)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    MYH13Q9UKX32, ENSP000002521724MINT-7899812 MINT-7900157 STRING: ENSP00000252172
    YWHAZP631042, ENSP000003095034MINT-7899812 MINT-7900157 STRING: ENSP00000309503
    MYH9P355792, ENSP000002161814MINT-7899812 MINT-7900157 STRING: ENSP00000216181
    ACTA2P627362, ENSP000002247844MINT-7899812 MINT-7900157 STRING: ENSP00000224784
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002026regulation of the force of heart contraction IDA15621050
    GO:0002027regulation of heart rate IDA15621050
    GO:0006200ATP catabolic process IDA15621050
    GO:0006936muscle contraction TAS15856146
    GO:0006941striated muscle contraction IDA15621050

    Find genes that share ontologies with MYH7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for MYH7 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BTSSelective inhibitor of skeletal muscle myosin II ATPase activity[1576-37-0]
    (R)-(+)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760)[1177356-70-5]
    (S)-(-)-BlebbistatinSelective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760)[856925-71-8]
    (+-)-BlebbistatinSelective inhibitor of myosin II ATPase activity[674289-55-5]

    1 DrugBank Compound for MYH7    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for MYH7 gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcat 57.4 3 11306707 (1), 12388056 (1), 17962623 (1)
    actomyosin 52.8 1 15498825 (1)
    arginine 27.6 14 17495353 (1), 17560888 (1), 18499102 (1), 19586842 (1) (see all 7)
    gp 130 22.7 1 12829178 (1)
    leucine 21.7 3 12847114 (2), 8435239 (1)
    ryanodine 18.3 2 17556658 (1), 12213966 (1)
    chloramphenicol 16.4 2 10318848 (1), 1915896 (1)
    guanine 14.7 1 1569957 (1)
    isoproterenol 12.5 1 18032525 (1)
    creatinine 10.3 8 9224543 (1), 7591384 (1), 7866607 (1), 7704948 (1) (see all 7)



    Find genes that share compounds with MYH7           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MYH7 gene: 
    NM_000257.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000355349(uc001wjx.3)
    miRNA
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    Selected AceView cDNA sequences (see all 640):

    AJ710169 F30420 AJ710171 AA346209 AJ707344 F24269 BQ953944 F24972 
    CF552042 F18289 CF552414 F18713 F22252 F36151 F27231 F26266 
    F24332 CF552401 CF552231 F27146 F16561 F27807 F31381 F31245 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MYH7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGAGCCTG
    MYH7 Expression
    About this image


    MYH7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 17 entries
             Heart Tube Cells Heart Tube
             Heart Tube
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like progenitor cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 19 entries
             Multinuclear Myocytes Mandibular Arch Muscles
     
     NULL (Uncategorized)    fully expand to see all 4 entries
             Cardiac mesoderm embryoid bodies
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Bone (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
    MYH7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYH7 Protein Expression

    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
    Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MYH7: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYH7

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MYH7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myh71 , 5 myosin, heavy polypeptide 7, cardiac muscle, beta1, 5 91.97(n)1
    97.52(a)1
      14 (28.01 cM)5
    1407811  NM_080728.21  NP_542766.11 
     549706885 
    chicken
    (Gallus gallus)
    Aves MYH71 myosin, heavy chain 7, cardiac muscle, beta 82.23(n)
    88.68(a)
      395350  NM_001001302.1  NP_001001302.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    93(a)
    88(a)
    1 ↔ many
    1 ↔ many
    GL343680.1(78349-104768)
    GL343680.1(139568-166397)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF153395.12   -- 82.27(n)    CF153395.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF114427.22   -- 78.4(n)   30616  AF114427.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mhc1 , 3 striated muscle contraction myosin
    ATPase3
    Myosin heavy chain1
    51(a)
    (best of 2)3
    62.83(n)1
    56.52(a)1
      2 36B13
    350071  NM_001259120.11  NP_001246049.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MYO11 MYO1 48.09(n)
    42.4(a)
      856418   NP_011888.1 


    ENSEMBL Gene Tree for MYH7 (if available)
    TreeFam Gene Tree for MYH7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYH7 gene
    MYH82  MYH12  MYH22  MYH112  MYH142  MYH92  MYH102  MYH132  
    MYH7B2  MYH42  MYH32  MYH152  MYH62  
    Selected SIMAP similar genes for MYH7 using alignment to 12 protein entries:     MYH7_HUMAN (see all proteins) (see all similar genes):
    MYH6    MYH1    MYH4    MYH8    MYH2    MYH13
    MYH3    alpha-MHC    MYH15    MYH7B    MYH16    MYO18A
    MYH9    MYH14    MYH11    MYH10    MYO5B    MYO5C

    Find genes that share paralogs with MYH7           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MYH7 (see all 1233)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289330981,2,,4
    CScapuloperoneal myopathy MYH7-related (SPMM)4 pathogenic14881214(-) GCGAGA/C/TGGCGC 2 R W mis1 ese30--------
    rs362117151,2,,4
    CCardiomyopathy, familial hypertrophic 1 (CMH1)4 pathogenic14891028(-) TCGCCG/ACAAGG 2 /H /R mis12Minor allele frequency- A:0.00NA 4
    rs2021411731,2,,4
    Cardiomyopathy, familial hypertrophic 1 (CMH1)4 --4891031(+) TGCGGC/TGAGCC 2 H R mis10--------
    rs28568971,2,,4
    CCardiomyopathy, familial hypertrophic 1 (CMH1)4 --4891064(-) CACAGA/C/GCCTCA 3 H P R mis12NA 4
    rs32187161,2,,4
    C,F,HCardiomyopathy, familial hypertrophic 1 (CMH1)4 --4891505(-) TGCTCG/ACCAGA 2 /T /A mis1 ese310Minor allele frequency- A:0.00NS EA NA 5408
    rs32187151,2,,4
    HCardiomyopathy, familial hypertrophic 1 (CMH1)4 --4894772(-) AGCAGG/AAGGAG 2 /K /E mis1 ese36Minor allele frequency- A:0.00NS EA NA 410
    rs32187141,2,,4
    C,HCardiomyopathy, familial hypertrophic 1 (CMH1)4 pathogenic14895468(-) ACCCTC/TGGGTG 2 R W mis15Minor allele frequency- T:0.00NS EA NA 408
    rs32187131,2,,4
    C,HCardiomyopathy, familial hypertrophic 1 (CMH1)4 pathogenic14897657(-) CATTCG/AAATTC 2 /Q /R mis1 ese36Minor allele frequency- A:0.00NS EA NA 408
    rs1869645701,2,,4
    CCardiomyopathy, familial hypertrophic 1 (CMH1)4 --4899845(+) TCTGCA/GCTTCT 2 A V mis10--------
    VAR_0428244
    Cardiomyopathy, familial hypertrophic 1 (CMH1)4--see VAR_0428242 E K mis40--------

    HapMap Linkage Disequilibrium report for MYH7 (23881947 - 23904927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYH7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748480CNV Deletion23290073
    nsv901493CNV Loss21882294
    nsv456166CNV Gain19166990
    nsv470623CNV Gain18288195

    Human Gene Mutation Database (HGMD): MYH7
    Locus Specific Mutation Databases (LSDB): MYH7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYH7
    DNA2.0 Custom Variant and Variant Library Synthesis for MYH7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 160760   
    OMIM disorders: 192600  613426  608358  160500  181430  
    UniProtKB/Swiss-Prot: MYH7_HUMAN, P12883
  • Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by
    ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms
    include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The
    disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of
    cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal
    hyalinized bodies in type 1 muscle fibers. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the
    lower legs and affecting the shoulder region earlier and more severely than distal arm. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective
    weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal
    weakness occasionally develops years later after the onset of the disease. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for MYH7 (see all 27):    
    About MalaCards
    hypertrophic cardiomyopathy    myh7-related familial hypertrophic cardiomyopathy    myosin storage myopathy    myh7-related myosin storage myopathy
    cardiomyopathy, familial hypertrophic, 1    myh7-related congenital fiber-type disproportion    left ventricular noncompaction 5    myh7-related dilated cardiomyopathy
    ebstein anomaly    myh7-related scapuloperoneal myopathy    cardiomyopathy, dilated, 1s    laing distal myopathy
    rigid spine syndrome    familial hypertrophic cardiomyopathy    oculopharyngeal muscular dystrophy    endocardial fibroelastosis
    hypertrophic cardiomyopathy, midventricular, digenic    caveolinopathies    bone fracture    myopathy

    4 diseases from the University of Copenhagen DISEASES database for MYH7:
    Hypertrophic cardiomyopathy     Familial hypertrophic cardiomyopathy     Dilated cardiomyopathy     Myopathy

    Find genes that share disorders with MYH7           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MYH7 gene (see all 33)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertrophy 77.2 19 10329202 (2), 10212267 (1), 12520092 (1), 17517351 (1) (see all 16)
    cardiac hypertrophy 75 9 7796500 (1), 19168726 (1), 18693253 (1), 19641707 (1) (see all 8)
    death sudden cardiac 74.7 6 10957787 (1), 16335287 (1), 12881443 (1), 8180512 (1) (see all 6)
    dilated cardiomyopathy 74.5 12 17947214 (2), 18953637 (2), 17434305 (1), 20086309 (1) (see all 10)
    distal myopathies 72.3 7 15322983 (3), 17383184 (2), 17434305 (1), 16103042 (1)
    death sudden 72 9 18383048 (2), 11377367 (1), 16630449 (1), 14563299 (1) (see all 7)
    cardiomyopathy 71.8 17 19864899 (3), 17947214 (2), 11515275 (1), 17372140 (1) (see all 14)
    ventricular hypertrophy 66.1 3 16504640 (1), 8261235 (1)
    myopathy 59 29 17336526 (3), 15699387 (2), 15605950 (2), 16684601 (1) (see all 16)
    myopathy, congenital 56.9 2 15605950 (1), 19336582 (1)

    GeneTests: MYH7
    GeneReviews: MYH7
    Genetic Association Database (GAD): MYH7
    Human Genome Epidemiology (HuGE) Navigator: MYH7 (47 documents)

    Export disorders for MYH7 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MYH7 gene, integrated from 10 sources (see all 409):
    (articles sorted by number of sources associating them with MYH7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PubMed id 15769782)1, 2, 4, 9 Villard E.... Komajda M. (Eur. Heart J. 2005)
    2. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PubMed id 15563892)1, 2, 4, 9 Song L.... Hui R. (Clin. Chim. Acta 2005)
    3. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1). (PubMed id 15322983)1, 2, 3, 9 Meredith C.... Laing N.G. (Am. J. Hum. Genet. 2004)
    4. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (PubMed id 15856146)1, 2, 4, 9 Perrot A.... Osterziel K.J. (J. Mol. Med. 2005)
    5. Shared genetic causes of cardiac hypertrophy in children and adults. (PubMed id 18403758)1, 2, 4, 9 Morita H.... Seidman C.E. (N. Engl. J. Med. 2008)
    6. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. (PubMed id 15858117)1, 2, 4, 9 Yu B.... Trent R.J. (J. Clin. Pathol. 2005)
    7. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. (PubMed id 11214007)1, 2, 4, 9 Havndrup O.... Christiansen M. (Scand. Cardiovasc. J. 2000)
    8. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. (PubMed id 8483915)1, 2, 3, 9 Fananapazir L.... Epstein N.D. (Proc. Natl. Acad. Sci. U.S.A. 1993)
    9. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. (PubMed id 16199542)1, 2, 4 Ingles J.... Semsarian C. (J. Med. Genet. 2005)
    10. Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. (PubMed id 12820698)1, 2, 4 Mohiddin S.A.... Fananapazir L. (Genet. Test. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4625 HGNC: 7577 AceView: MYH7andMYH6 Ensembl:ENSG00000092054 euGenes: HUgn4625
    ECgene: MYH7 Kegg: 4625 H-InvDB: MYH7

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MYH7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MYH7[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYH7 gene:
    Search GeneIP for patents involving MYH7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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